Дефіцит бурштинової напівальдегід дегідрогенази
ORPHA:22· ICD-10 E72.8· Succinic semialdehyde dehydrogenase deficiency
Визначення(English summary)
A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy, Neonatal